Canonical Allele Identifier: CA342322470

Gene: CTSS

Linked Data

• dbSNP Id: rs1158723295
• gnomAD v3: 1-150733126-C-T
• gnomAD v4: 1-150733126-C-T
• MyVariant Identifiers: chr1:g.150705602C>T (hg19) ; chr1:g.150733126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733126C>T , CM000663.2:g.150733126C>T	GRCh38
NC_000001.10:g.150705602C>T , CM000663.1:g.150705602C>T	GRCh37
NC_000001.9:g.148972226C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.916G>A MANE Select	ENSP00000357981.3:p.Glu306Lys
ENST00000448301.7:c.688G>A	ENSP00000408414.2:p.Glu230Lys
ENST00000472977.7:c.916G>A	ENSP00000475176.2:p.Glu306Lys
ENST00000483930.2:c.*110G>A	ENSP00000475812.2:n.*110G>A
ENST00000607427.2:c.916G>A	ENSP00000475557.2:p.Glu306Lys
ENST00000679512.1:c.813G>A	ENSP00000505113.1:p.Val271=
ENST00000679898.1:c.643G>A	ENSP00000505326.1:p.Glu215Lys
ENST00000680288.1:c.766G>A	ENSP00000506001.1:p.Glu256Lys
ENST00000680311.1:c.647G>A	ENSP00000505020.1:p.Ter216=
ENST00000680471.1:c.*87G>A	ENSP00000506603.1:n.*87G>A
ENST00000680664.1:c.739G>A	ENSP00000506248.1:p.Glu247Lys
ENST00000680931.1:c.*266G>A	ENSP00000504934.1:n.*266G>A
ENST00000681357.1:n.306G>A
ENST00000681444.1:c.916G>A	ENSP00000505359.1:p.Glu306Lys
ENST00000368985.7:c.916G>A	ENSP00000357981.3:p.Glu306Lys
ENST00000448301.6:c.766G>A	ENSP00000408414.1:p.Glu256Lys
ENST00000472977.6:c.209G>A
ENST00000483930.1:c.464G>A	ENSP00000475812.1:n.464G>A
NM_001199739.1:c.766G>A	NP_001186668.1:p.Glu256Lys
NM_004079.4:c.916G>A	NP_004070.3:p.Glu306Lys
NM_004079.5:c.916G>A MANE Select	NP_004070.3:p.Glu306Lys
NM_001199739.2:c.766G>A	NP_001186668.1:p.Glu256Lys